This is the kind of news that unleashes hysteria about "death panels" and "health-care rationing," but here goes: an analysis of genetic screening for an incurable, untreatable disease called spinal muscular atrophy shows that it would cost $4.7 million to catch and avert one case, compared with $260,000 to provide lifetime care for a child born with it. So here's the question: do we say, "Damn the cost; it is worth any price to spare a single child the misery of being unable to crawl, walk, swallow, or move his head and neck"—or do we, as a society, put on the green eyeshades and say, "No, sorry, we can't afford routine screening"?
Just to be clear, this is not about comparative-effectiveness research, which analyzes whether treatments work and which ones work best, without regard to cost. In contrast, studies of cost effectiveness, like this one, take something that works and ask whether the cost is worth the benefit. There is no question that screening for the genetic mutation that causes spinal muscular atrophy works, in that screening detects the mutation in 95 percent of those whose DNA has it. If a couple decides not to conceive (if they were screened before trying to start a family, they can instead use donor sperm, for instance), to implant only healthy embryos (if they are using in vitro fertilization), or to terminate the pregnancy, then a child with SMA is not born.
The study presented Thursday at the Society for Maternal-Fetal Medicine’s annual meeting starts from this "screening works" premise. What, asked Sarah Little of Massachusetts General Hospital and her colleagues, would be the costs and benefits of universal screening?
Here's the numbers-heavy paragraph. One in 50 Americans carries an SMA mutation. Because carrying one copy of the mutated gene causes no symptoms, people don't know if they're carriers (though having relatives with SMA should raise suspicions). If two carriers conceive a child, however, there is a 25 percent chance the child will have SMA, which is the most common genetic cause of infant mortality. About 1 in 10,000 babies are born with SMA. Of those children, 70 percent have a severe form of the disease, in which newborns are limp and floppy, cannot lift their heads, and have difficulty rolling over, sucking, and even swallowing. Universal screening detects 95 percent of carriers, and 2 percent of babies born with SMA have the disease even though neither mom nor dad is a carrier (the gene mutated after conception). Screening costs just over $400 and lifetime care for someone with severe SMA costs $260,000. For an individual, that seems like a great deal. But throw all of this into a calculator for society as a whole, and the answer is this: 11,000 women would have to be screened to prevent one case of SMA, at a cost of $4.7 million per case averted.
Since the $4.7 million cost of averting one case of SMA swamps the cost of having a child with SMA, the brutal conclusion is that "screening everyone for SMA is not cost-effective," concluded Little and her colleagues. Only in people with a high risk of the disease, such as those with a family history of SMA, might it make sense.
Screening for SMA has been controversial for years. In November 2008, the American College of Medical Genetics recommended making carrier screening for SMA available to all families. But last May, the American College of Obstetricians and Gynecologists came out against preconception and prenatal screening for everyone, largely because you would have to test so many couples to avert a single case of SMA. The appeal of screening for genetic diseases seems obvious, however, and new companies are springing up to give parents-to-be the assurance they want.
So here's the issue. What if an insurer or (horrors!) "Obama-care" refused to cover SMA screening because it is not cost-effective? Judging by the hue and cry over the very idea of using cost-effectiveness to make coverage decisions (something that was never in any of the health-care bills), millions of people would be appalled—especially once the first SMA baby was born after his parents' insurer refused to pay for a genetic test. Unconsciously or implicitly, then, many of us are in favor of paying $4.7 million to let a couple know that their fetus has SMA. But as we've seen in the public hostility toward health-care reform, there is deep ambivalence about how much of our hard-earned money we are willing to spend to avert preventable deaths in people who die because they do not have health insurance. For many Americans, that answer seems to be "not one dime." It's the old story: we respond to specific cases of tragedy when they come with a name and a face, but grow cold and uncaring when the unfortunate are nameless masses.
More such cost-effectiveness analyses of various medical treatments are in the works. The question is, how will American doctors, insurers, patients, and others use the information? Research has already shown that digital mammography, for instance, is not cost-effective compared to plain old film mammograms, but because of the power of breast-cancer groups, insurers have been loath to tell patients, "no, sorry, not worth it." And when Britain uses such analyses to decide what its National Health Service will pay for, Americans go crazy. (This fear is the basis for the false claim in ads featuring former surgeon general C. Everett Koop that he, as a 93-year-old, would not be allowed to receive a pacemaker or joint replacement under the British system.) At least the Brits apply the guidelines about what a life is worth consistently.
Sharon Begley is NEWSWEEK's science editor and author of The Plastic Mind: New Science Reveals Our Extraordinary Potential to Transform Ourselvesand Train Your Mind, Change Your Brain: How a New Science Reveals Our Extraordinary Potential to Transform Ourselves.